Linked Data
ClinVar Variation Id:
388315
dbSNP Id:
rs1057523068
gnomAD v2:
17-59821788-G-A
gnomAD v4:
17-61744427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61744427G>A , CM000679.2:g.61744427G>A | GRCh38 |
| NC_000017.10:g.59821788G>A , CM000679.1:g.59821788G>A | GRCh37 |
| NC_000017.9:g.57176570G>A | NCBI36 |
| NG_007409.2:g.124133C>T , LRG_300:g.124133C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584322.2:c.2257+5C>T | ENSP00000463272.2:n.2257+5C>T | |
| ENST00000682066.1:c.2387+5C>T | ENSP00000507191.1:n.2387+5C>T | |
| ENST00000682073.1:n.997+5C>T | ||
| ENST00000682433.1:n.1336+5C>T | ||
| ENST00000682453.1:c.2257+5C>T | ENSP00000506943.1:n.2257+5C>T | |
| ENST00000682477.1:c.*1683+5C>T | ENSP00000507075.1:n.*1683+5C>T | |
| ENST00000682589.1:n.8134+5C>T | ||
| ENST00000682755.1:c.2035+5C>T | ENSP00000507660.1:n.2035+5C>T | |
| ENST00000682989.1:c.2257+5C>T | ENSP00000507786.1:n.2257+5C>T | |
| ENST00000683039.1:c.2257+5C>T | ENSP00000508303.1:n.2257+5C>T | |
| ENST00000683235.1:c.2257+5C>T | ENSP00000507646.1:n.2257+5C>T | |
| ENST00000683381.1:c.2317+5C>T | ENSP00000508184.1:n.2317+5C>T | |
| ENST00000683535.1:n.387+5C>T | ||
| ENST00000684471.1:n.670+5C>T | ||
| ENST00000684584.1:c.1750+5C>T | ENSP00000508044.1:n.1750+5C>T | |
| ENST00000684769.1:c.322+5C>T | ENSP00000507691.1:n.322+5C>T | |
| ENST00000259008.7:c.2257+5C>T MANE Select | ENSP00000259008.2:n.2257+5C>T | |
| ENST00000259008.6:c.2257+5C>T | ENSP00000259008.2:n.2257+5C>T | |
| ENST00000577598.5:c.2257+5C>T | ENSP00000464654.1:n.2257+5C>T | |
| ENST00000584322.1:c.240+5C>T | ||
| NM_032043.2:c.2257+5C>T , LRG_300t1:c.2257+5C>T | NP_114432.2:n.2257+5C>T | |
| XM_011525332.1:c.2317+5C>T | XP_011523634.1:n.2317+5C>T | |
| XM_011525333.1:c.2317+5C>T | XP_011523635.1:n.2317+5C>T | |
| XM_011525334.1:c.2317+5C>T | XP_011523636.1:n.2317+5C>T | |
| XM_011525335.1:c.2257+5C>T | XP_011523637.1:n.2257+5C>T | |
| XM_011525336.1:c.2197+5C>T | XP_011523638.1:n.2197+5C>T | |
| XM_011525337.1:c.2116+5C>T | XP_011523639.1:n.2116+5C>T | |
| XM_011525338.1:c.1834+5C>T | XP_011523640.1:n.1834+5C>T | |
| XM_011525339.1:c.2317+5C>T | XP_011523641.1:n.2317+5C>T | |
| XM_011525340.1:c.2317+5C>T | XP_011523642.1:n.2317+5C>T | |
| XM_011525332.3:c.2317+5C>T | XP_011523634.1:n.2317+5C>T | |
| XM_011525333.3:c.2317+5C>T | XP_011523635.1:n.2317+5C>T | |
| XM_011525334.2:c.2317+5C>T | XP_011523636.1:n.2317+5C>T | |
| XM_011525335.3:c.2257+5C>T | XP_011523637.1:n.2257+5C>T | |
| XM_011525336.2:c.2197+5C>T | XP_011523638.1:n.2197+5C>T | |
| XM_011525337.2:c.2116+5C>T | XP_011523639.1:n.2116+5C>T | |
| XM_011525338.2:c.1834+5C>T | XP_011523640.1:n.1834+5C>T | |
| XM_011525339.3:c.2317+5C>T | XP_011523641.1:n.2317+5C>T | |
| XM_011525340.3:c.2317+5C>T | XP_011523642.1:n.2317+5C>T | |
| XM_017025200.1:c.1774+5C>T | XP_016880689.1:n.1774+5C>T | |
| XM_017025201.1:c.1774+5C>T | XP_016880690.1:n.1774+5C>T | |
| XM_017025202.1:c.403+5C>T | XP_016880691.1:n.403+5C>T | |
| XM_017025203.1:c.403+5C>T | XP_016880692.1:n.403+5C>T | |
| NM_032043.3:c.2257+5C>T MANE Select | NP_114432.2:n.2257+5C>T |